DisGeNET - a database of gene-disease associations

CREB3L1, cAMP responsive element binding protein 3 like 1, 90993

N. diseases: 88; N. variants: 12

Disease: Osteopenia ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0029453
Disease:	Osteopenia

Osteopenia

0.110

AlteredExpression

disease

BEFREE

OASIS is a transcription factor highly expressed in osteoblasts, and OASIS<sup>-/-</sup> mice exhibit severe osteopenia and spontaneous fractures.

29936144

2018

CUI:	C0029453
Disease:	Osteopenia

Osteopenia

0.110

Biomarker

disease

HPO

CUI:	C0029453
Disease:	Osteopenia

Osteopenia

0.110

CausalMutation

disease

CLINVAR